Family hopeful after medical revelations

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ENDICOTT, NY – A major medical development in recent months has led to a new burst of hope for a family in our area.

NewsChannel 34’s James Atherlay shows us how it has dealt with a crippling disease.

Spinal Muscular Atrophy is a dangerous neuromuscular disease that can be fatal. It causes the brain to lose control of the body’s muscles and can interfere with breathing and swallowing.

SMA is the leading genetic cause of death in infants, but Endicott 2 and a half year-old Liam Fabrizi is defying the odds.

Liam’s Mother Megan Fabrizi says, “He is a really sweet boy, but he is also a little sassy-pants. He likes to bust my chops an awful lot.”

The Fabrizis face a number of challenges. Liam’s older brother Andrew is on the autism spectrum.

The family has received help from a new drug called Evrysdi, , which the FDA approved to be the first at-home treatment for S-M-A in adults and children older than 2 months.

It’s expensive, but that doesn’t bother Megan.

“I run a small business out of my home, so when the boys go to bed, I get my orders done and everything. Aside from that, our days are really crazy, but they’re worth it,” says Fabrizi.

The new drug has yielded positive results for Liam, which is extremely encouraging to his family.

His father says he can now do things he couldn’t before.

“His yell has become a lot louder, his grip, he wasn’t able to roll that well before. He’s starting to roll to both sides now,” says Scott.

Liam is able to speak clearly, so he can make jokes with his mother whenever he wants.

“I was leaving the house for a little bit, and I told him I’d be back, and I was like “I love you babe”, and he looks at our puppy, and looks back up at me and said “I love that dog,” says Megan.

Before the introduction of Evrysdi , Liam wasn’t able to move at all, other than lifting 1 of his hands from time to time.

The Farbrizis say the changes have been nothing short of a Christmas miracle.

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